Autor: Clinical genetics

Researchers from the Keck School of Medicine of USC have made an important advance toward understanding—and potentially treating—a rare cardiomyopathy (heart muscle disease) that is present from birth. The condition, known as AARS2-related cardiomyopat…

The physical differences between men and women are all too obvious, but the biological divide goes right down to the cellular level in the brain, according to a new study published in the journal Science.

In a new study published in Genes & Development, research led by Dr. Lila Allou at the MRC Laboratory of Medical Sciences (LMS) in London and Professor Stefan Mundlos at the Max Planck Institute for Molecular Genetics and Charité in Berlin demonstrates…

Investigators led by Northwestern Medicine scientists have identified mutations in a gene coding for a key ion channel in the brain as a new cause of a debilitating form of migraine, according to a study published in Brain. Familial hemiplegic migraine…

An innovative gene-editing strategy could establish a new way for the body to manufacture therapeutic proteins—including certain kinds of highly potent antibodies that are naturally difficult to produce—by reprogramming the immune system itself.

Why does the same genetic mutation cause a severe brain malformation in some patients but not in others? Researchers from the MOSAIC team at the Paris Brain Institute have developed mosaic human cortical organoids carrying mutations in the DEPDC5 gene …

Researchers at the MRC Laboratory of Medical Sciences (LMS) and Imperial College London have identified an overworked cog in the cellular machinery of tumor cells that could be targeted by new treatment options for an aggressive class of cancers. The t…

A University of Calgary-led study has found evidence that children with genes predisposing them to migraine might have an increased risk of having more headaches after a concussion, which are known to be linked to prolonged symptoms up to six months af…

Northwestern Medicine scientists have uncovered an unexpected role for a well-known cancer-related protein, revealing a new layer of genetic regulation that could reshape how certain cancers are treated. In a new study published in Nature Communication…

The human immune system is finely tuned to detect and destroy viral threats. But this same defense system can misfire. When fragments of the body’s own damaged DNA are mistaken for viral invaders, the result is a powerful, misplaced inflammatory respon…